ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val)

gnomAD frequency: 0.00001  dbSNP: rs751176402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333206 SCV001525723 uncertain significance Recessive dystrophic epidermolysis bullosa 2018-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002546617 SCV003475371 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing

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